Association study reveals novel risk loci for sporadic inclusion body myositis

Abstract

Background and purpose: The aim was to identify potential genetic risk factors associated with sporadic inclusion body myositis (sIBM).

Methods: An association based case-control approach was utilized on whole exome sequencing data of 30 Finnish sIBM patients and a control cohort (n = 193). A separate Italian cohort of sIBM patients (n = 12) was used for evaluation of the results.

Results: Seven single nucleotide polymorphisms were identified in five genes that have a considerably higher observed frequency in Finnish sIBM patients compared to the control population, and the previous association of the genetic human leukocyte antigen region was confirmed.

Conclusions: All seven identified variants could individually or in combination increase the susceptibility for sIBM.

Keywords: HLA; association study; case−control study; genetic risk factors; risk loci; sphingolipids; sporadic inclusion body myositis; whole exome sequencing.